NBN - Gene browser

NBN

nibrin

HCNC Approved Symbol: NBN (HGNC:7652)
Genomic Coordinates: 8:89,933,331 - 89,984,667 (8q21.3)
Synonyms: ATV, AT-V2, AT-V1, NBS, NBS1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the NBN gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

06
Patient count

Microcephaly: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Bone marrow hypocellularity: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Bone marrow hypoplasia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Pancytopenia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Growth delay: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)